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ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestry

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Kim-Howard, Xana
Maiti, Amit K
Anaya, Juan-Manuel
Bruner, Gail R
Brown, Elizabeth
Merrill, Joan T
Edberg, Jeffrey C
Petri, Michelle A
Reveille, John D
Ramsey-Goldman, Rosalind



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Purpose: It was hypothesised that the coding variant (R77H), rs1143679, within ITGAM could predict specific clinical manifestations associated with systemic lupus erythematosus (SLE). Method: To assess genetic association, 2366 patients with SLE and 2931 unaffected controls with European ancestry were analysed. The patients with SLE were coded by the presence or absence of individual American College of Rheumatology criteria. Logistic regression and Pearson ?2 tests were used to assess statistical significance. Results: For overall case-control analysis, a highly significant association was detected (p=2.22x10-21, OR 1.73). Using case-only analysis, a significant association was detected with renal criteria (p=0.0003), discoid rash (p=0.02) and immunological criteria (p=0.04). When patients with SLE were compared with healthy controls, the association became stronger for renal (p=4.69x10-22, OR 2.15), discoid (p=1.77x10-14, OR 2.03) and immunological (p=3.49x10-22, OR 1.86) criteria. Risk allele frequency increased from 10.6% (controls) to 17.0% (SLE), 20.4% (renal), 18.1% (immunological) and 19.5% (discoid). Conclusion: These results show a strong association between the risk allele (A) at rs1143679 and renal disease, discoid rash and immunological manifestations of SLE.
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CD11b antigen , ITGAM antigen , Systemic , human , Discoid , CD11b , Unclassified drug , Autoantibody , CD11b antigen , ITGAM protein , Arthritis , Article , Cohort analysis , Controlled study , Discoid rash , Disease association , Europe , Gene frequency , Genetic variability , Hematologic disease , Human , Hypothesis , Immunopathology , Inflammation , Kidney disease , Major clinical study , Mouth ulcer , Nephritis , Neurologic disease , Photosensitivity , Priority journal , Rash , Risk assessment , Systemic lupus erythematosus , Blood , Discoid lupus erythematosus , Female , Genetic predisposition , Genetics , Genotype , Immunology , Lupus erythematosus nephritis , Male , Antigens , Autoantibodies , Female , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , Lupus Erythematosus , Lupus Erythematosus , Lupus Nephritis , Male
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